A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864246



Internal ID13316724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3135448..3135487hg38UCSC Ensembl
Innerchr4:3135450..3135485hg38UCSC Ensembl
Outerchr4:3135446..3135489hg38UCSC Ensembl
chr4:3137175..3137214hg19UCSC Ensembl
Innerchr4:3137177..3137212hg19UCSC Ensembl
Outerchr4:3137173..3137216hg19UCSC Ensembl
chr4:3106973..3107012hg18UCSC Ensembl
Innerchr4:3106975..3107010hg18UCSC Ensembl
Outerchr4:3106971..3107014hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387920
Supporting Variants
SamplesNA12005
Known GenesHTT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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